| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302347 |
| Start |
44891986:44891986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1235A>T |
| AA Mutation |
p.Gln412Leu(p.Q412L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302347 |
| Start |
44901526:44901526(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.707G>T |
| AA Mutation |
p.Gly236Val(p.G236V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302347 |
| Start |
44890044:44890044(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1591G>A |
| AA Mutation |
p.Gly531Arg(p.G531R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |